Erythermalgia, Primary

Description

'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained with cold (Michiels et al., 2005). The severity of the disorder may progress with age, and symptoms may extend over a larger body area, such as over the ankles and lower legs, and become constant (Mandell et al., 1977).Waxman and Dib-Hajj (2005) provided a review of primary erythermalgia.Although 'primary' or 'familial erythromelalgia' are sometimes used as alternative terms for primary erythermalgia (Waxman and Dib-Hajj, 2005), secondary erythromelalgia is a distinct acquired disorder associated with thrombocythemia or myeloproliferative disorders. It has relatively late onset and symptoms are caused by platelet aggregation in end-arteriolar circulation, leading to ischemia and symptoms (Michiels and van Joost, 1990). Treatment with aspirin, which irreversibly inhibits platelet cyclooxygenase activity, affords relief from acquired erythromelalgia (Michiels et al., 1984; Drenth et al., 1996). Similarly, acquired erythromelalgia vanishes with lowering the platelet count to normal with chemotherapy (Michiels et al., 1985).Van Genderen et al. (1993) emphasized the distinction between hereditary erythermalgia and acquired erythromelalgia. In primary erythermalgia, the burning pain, redness, and warmth of feet and lower legs, with relative sparing of the toes, are easily provoked by warmth and exercise. In contrast, in acquired erythromelalgia the burning pain and red congestion preferentially involves one or more toes or fingers or sole of the forefoot (Michiels and van Joost, 1990). Van Genderen et al. (1993) noted that 3 of the 5 patients reported by Smith and Allen (1938) were not consistent with the diagnosis of primary erythromelalgia because the symptoms were relieved promptly by aspirin, consistent with acquired erythromelalgia. Small Fiber NeuropathySmall nerve fiber neuropathy (SFNP) is a relatively common disorder of thinly myelinated and unmyelinated nerve fibers characterized clinically by adult onset of neuropathic pain, often of a burning quality, and autonomic symptoms. Affected individuals have reduced intraepidermal nerve fiber density affecting the small diameter nerve fibers; large diameter fibers are spared (summary by Faber et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Erythermalgia, Primary

  • Pica
  • Peripheral neuropathy
  • Pain
  • Diarrhea
  • Constipation
  • Hyperhidrosis
  • Pes planus
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Erythermalgia, Primary Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
34 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
34 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc in United States.

UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
34 %
SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9.

By Center for Human Genetics, Inc in United States.

SCN9A
Specificity
100 %
Genes
34 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
34 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, GLDC, AMT, SLC9A6, SUOX, ALDH7A1, MOCS1, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
34 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
34 %
SCN9A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN9A
Specificity
100 %
Genes
34 %
SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN1A, SCN9A, SCN1B, GABRD, GABRG2
Specificity
20 %
Genes
34 %
SCN9A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN9A
Specificity
100 %
Genes
34 %
SCN9A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN9A
Specificity
100 %
Genes
34 %
Primary Erythromelalgia (sequence analysis of SCN9A gene).

By CGC Genetics in Portugal.

SCN9A
Specificity
100 %
Genes
34 %
Epilepsy, generalized, with febrile seizures plus, type 7 (sequence analysis of SCN9A gene).

By CGC Genetics in Portugal.

SCN9A
Specificity
100 %
Genes
34 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
3 %
Genes
67 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
Paroxysmal extreme pain disorder (sequence analysis of SCN9A gene).

By CGC Genetics in Portugal.

SCN9A
Specificity
100 %
Genes
34 %
Congenital Indifference to Pain, Autosomal Recessive.

By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.

SCN9A
Specificity
100 %
Genes
34 %
Primary Erythromelalgia.

By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.

SCN9A
Specificity
100 %
Genes
34 %
Paroxysmal Extreme Pain Disorder.

By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.

SCN9A
Specificity
100 %
Genes
34 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADSL, POLG, MECP2, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
34 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
2 %
Genes
67 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCN9A, SCN10A, SCN11A
Specificity
100 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLG, SPTLC2, FLVCR1, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, CCT5, DST, RETREG1, NGF, SCN11A, ATL3, CLTCL1, PRDM12
Specificity
10 %
Genes
67 %
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene.

By PreventionGenetics PreventionGenetics in United States.

SCN9A
Specificity
100 %
Genes
34 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
34 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
34 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
3 %
Genes
100 %
SCN9A-Related Inherited Erythromelalgia.

By MGZ Medical Genetics Center in Germany.

SCN9A
Specificity
100 %
Genes
34 %
SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus.

By MGZ Medical Genetics Center in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Congenital Indifference to Pain, Autosomal Recessive.

By MGZ Medical Genetics Center in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Paroxysmal Extreme Pain Disorder.

By MGZ Medical Genetics Center in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Epileptic encephalopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UBE3A, MECP2, STXBP1, SLC25A22, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, SYNGAP1, SCN1A, SCN9A, SLC19A3, SCN1B, SCN2A, GRIN2B, KCNT1, KCNQ2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ADGRV1, PCDH19, SCN1A, SCN9A, SCN1B, SCN2A, GABRD, GABRG2, TBC1D24, CLCN2
Specificity
10 %
Genes
34 %
Generalized epilepsy with febrile seizures plus type 7.

By Centogene AG - the Rare Disease Company in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Erythermalgia, primary.

By Centogene AG - the Rare Disease Company in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Hereditary sensory and autonomic neuropathy type 2.

By Centogene AG - the Rare Disease Company in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Insensitivity to pain, channelopathy-associated.

By Centogene AG - the Rare Disease Company in Germany.

SCN9A
Specificity
100 %
Genes
34 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
67 %
Dravet syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Congenital Indifference to Pain, Autosomal Recessive.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
34 %
Neuropathic Pain Syndromes Panel.

By CeGaT GmbH in Germany.

NTRK1, SCN9A, SCN10A, SCN11A, TRPA1
Specificity
60 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
4 %
Genes
100 %
Single gene testing SCN9A.

By CeGaT GmbH in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Dravet syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

STXBP1, PCDH19, SCN1A, SCN9A, SCN2A, GABRA1, GABRG2
Specificity
15 %
Genes
34 %
Generalized epilepsy with febrile seizures plus.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

SCN1A, SCN9A, SCN1B, SCN2A, GABRD, GABRG2
Specificity
17 %
Genes
34 %
SCN9A.

By Institute of Human Genetics University Hospital Jena in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
Epilepsy, generalized with febrile seizures plus, type 7.

By Praxis fuer Humangenetik Wien in Austria.

SCN9A
Specificity
100 %
Genes
34 %
Febrile seizures, familial, 3b.

By Praxis fuer Humangenetik Wien in Austria.

SCN9A
Specificity
100 %
Genes
34 %
Erythermalgia.

By Praxis fuer Humangenetik Wien in Austria.

SCN9A
Specificity
100 %
Genes
34 %
Insensitivity to pain, channelopathy-associated.

By Praxis fuer Humangenetik Wien in Austria.

SCN9A
Specificity
100 %
Genes
34 %
Paroxysmal extreme pain disorder.

By Praxis fuer Humangenetik Wien in Austria.

SCN9A
Specificity
100 %
Genes
34 %
Small fiber neuropathy.

By Praxis fuer Humangenetik Wien in Austria.

SCN9A
Specificity
100 %
Genes
34 %
Epilepsy, generalized with febrile seizures plus, type 7.

By MedGene in Slovakia.

SCN9A
Specificity
100 %
Genes
34 %
Erythermalgia.

By MedGene in Slovakia.

SCN9A
Specificity
100 %
Genes
34 %
Febrile seizures, familial, 3b.

By MedGene in Slovakia.

SCN9A
Specificity
100 %
Genes
34 %
Insensitivity to pain, channelopathy-associated.

By MedGene in Slovakia.

SCN9A
Specificity
100 %
Genes
34 %
Paroxysmal extreme pain disorder.

By MedGene in Slovakia.

SCN9A
Specificity
100 %
Genes
34 %
Small fiber neuropathy.

By MedGene in Slovakia.

SCN9A
Specificity
100 %
Genes
34 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
3 %
Genes
67 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
34 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.

By Invitae in United States.

SPTLC2, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, DST, RETREG1, NGF, SCN11A, ATL3
Specificity
14 %
Genes
67 %
Invitae Early Infantile Epileptic Encephalopathy Panel.

By Invitae in United States.

STXBP1, SLC25A22, ALDH7A1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SMC1A, SCN1A, GABRB3, SCN9A, SCN2A, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
Invitae Small Fiber Neuropathy Test.

By Invitae in United States.

SCN9A
Specificity
100 %
Genes
34 %
Erythromelalgia: SCN9A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SCN9A
Specificity
100 %
Genes
34 %
DRAVET, SYNDROME & MIOCLONIC EPILEPSY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHRNA7, PCDH19, SCN1A, CACNB4, EFHC1, NHLRC1, SCN9A, SCN1B, SCN2A, GABRD, EPM2A, GABRA1, GABRG2
Specificity
8 %
Genes
34 %
EPILEPSY HEREDITARY PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
34 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
34 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
34 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
34 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
34 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
67 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
SCN9A.

By Fulgent Genetics Fulgent Genetics in United States.

SCN9A
Specificity
100 %
Genes
34 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, STXBP1, SLC25A22, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CHRNB2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
34 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
34 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
67 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
3 %
Genes
67 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
34 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type VII.

By Bioarray in Spain.

SCN9A
Specificity
100 %
Genes
34 %
Erythermalgia, primary.

By Bioarray in Spain.

SCN9A
Specificity
100 %
Genes
34 %
SCN9A Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SCN9A
Specificity
100 %
Genes
34 %
FAMILIAL ERYTHROMELALGIA OR ERYTHERMALGIA.

By Laboratorio de Genetica Clinica SL in Spain.

SCN9A
Specificity
100 %
Genes
34 %
EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS.

By Laboratorio de Genetica Clinica SL in Spain.

SCN1A, SCN9A, GABRG2
Specificity
34 %
Genes
34 %
PAROXYSMAL EXTREME PAIN DISORDER.

By Laboratorio de Genetica Clinica SL in Spain.

SCN9A, SCN10A, SCN11A
Specificity
100 %
Genes
100 %
Small Fiber Neuropathy , Sequencing SCN9A Gene.

By Reference Laboratory Genetics in Spain.

SCN9A
Specificity
100 %
Genes
34 %
Erythromelalgia , Sequencing SCN9A Gene.

By Reference Laboratory Genetics in Spain.

SCN9A
Specificity
100 %
Genes
34 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

SCN1A, SCN9A, SCN1B, GABRD, GABRG2
Specificity
20 %
Genes
34 %
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

PCDH19, SCN1A, CACNB4, EFHC1, NHLRC1, SCN9A, SCN1B, SCN2A, EPM2A, GABRA1, GABRG2
Specificity
10 %
Genes
34 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

SLC25A12, STXBP1, ARX, CDKL5, PCDH19, SCN1A, CACNA1A, GABRB3, SCN9A, SCN2A, GRIN2B, HCN1, KCNQ2, GABRA1, ALG13, TBC1D24, DNM1, ST3GAL3, SCN8A, PIGA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A.

By Reference Laboratory Genetics in Spain.

SCN9A, SCN10A, TRPA1
Specificity
67 %
Genes
67 %
Paroxysmal extreme pain disorder.

By Labor Dr. Wisplinghoff in Germany.

SCN9A
Specificity
100 %
Genes
34 %
Hereditary Sensory and Autonomic Neuropathy Type II: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WNK1, KIF1A, SCN9A, RETREG1
Specificity
25 %
Genes
34 %
SCN9A-Related Inherited Erythromelalgia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SCN9A
Specificity
100 %
Genes
34 %
SCN11A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN11A
Specificity
100 %
Genes
34 %
Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene).

By CGC Genetics in Portugal.

SCN11A
Specificity
100 %
Genes
34 %
Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene).

By CGC Genetics in Portugal.

SCN11A
Specificity
100 %
Genes
34 %
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene.

By PreventionGenetics PreventionGenetics in United States.

SCN11A
Specificity
100 %
Genes
34 %
SCN11A.

By MGZ Medical Genetics Center in Germany.

SCN11A
Specificity
100 %
Genes
34 %
Episodic pain syndrome type 3, familial.

By Centogene AG - the Rare Disease Company in Germany.

SCN11A
Specificity
100 %
Genes
34 %
SCN11A.

By Fulgent Genetics Fulgent Genetics in United States.

SCN11A
Specificity
100 %
Genes
34 %
Episodic pain syndrome, familial.

By Labor Dr. Wisplinghoff in Germany.

SCN10A, SCN11A
Specificity
100 %
Genes
67 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, PTEN, TP53, RB1, ZFHX3, AR, CDKN2A, KMT2D, MED12, AKAP9, CDKN1B, PIK3CA, TBX20, SCN11A, CDK12, MYC, GLI1, KLF6, NIPA2, NKX3-1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Cardiac Arrhythmia Gene Panel.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

DSP, GLA, LMNA, MYH7, BAG3, MYBPC3, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, CACNB2, PKP2, RYR2, KCNE2, CASQ2, KCNA5, TNNI3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
SCN10A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SCN10A
Specificity
100 %
Genes
34 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

LMNA, CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
34 %
SCN10A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SCN10A
Specificity
100 %
Genes
34 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene).

By CGC Genetics in Portugal.

SCN10A
Specificity
100 %
Genes
34 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene).

By CGC Genetics in Portugal.

SCN10A
Specificity
100 %
Genes
34 %
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene.

By PreventionGenetics PreventionGenetics in United States.

SCN10A
Specificity
100 %
Genes
34 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, CAV3, DES, LDB3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
Brugada syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GAA, GLA, CAV3, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1C, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Brugada syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

GAA, GLA, CAV3, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1C, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Cardiac channelopathy Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Brugada syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GAA, GLA, CAV3, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1C, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Cardiac channelopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Cardiac channelopathy NGS panel.

By Connective Tissue Gene Tests in United States.

CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
SCN10A.

By MGZ Medical Genetics Center in Germany.

SCN10A
Specificity
100 %
Genes
34 %
Episodic pain syndrome type 2, familial.

By Centogene AG - the Rare Disease Company in Germany.

SCN10A
Specificity
100 %
Genes
34 %
Brugada Syndrome Panel.

By CeGaT GmbH in Germany.

KCND3, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, SCN10A
Specificity
8 %
Genes
34 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
J Wave Syndrome Panel.

By Health in Code in Spain.

KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RANGRF , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
34 %
Brugada Syndrome Panel.

By Health in Code in Spain.

KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RANGRF , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
34 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, EMD, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4, KCNE2, SCN4B, ACTC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease.

By Health in Code in Spain.

ACADM, DSP, LMNA, CAV3, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

HFE, TTR, GAA, DSP, CAVIN1, GLA, LMNA, CAV3, DES, MYH7, FLNC, LDB3, SYNE1, TMEM43, SYNE2, EMD, KCNJ2, KCND3, KCNH2, SCN1B , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
34 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
34 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, SYNE1, SYNE2, EMD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Brugada syndrome / J wave syndrome.

By Health in Code in Spain.

KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RANGRF , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
34 %
SCN10A.

By Fulgent Genetics Fulgent Genetics in United States.

SCN10A
Specificity
100 %
Genes
34 %
Atrial Fibrillation Panel.

By Blueprint Genetics in Finland.

LMNA, LDB3, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, SCN3B, CACNB2, RYR2, KCNE2, KCNJ5, KCNA5, TBX5, GATA6, NUP155, SCN10A
Specificity
6 %
Genes
34 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
34 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.

By Reference Laboratory Genetics in Spain.

ACADM, DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GAA, GLA, LMNA, DES, EMD, KCNJ2, SCN1B, HCN4, SCN5A, CACNA1D, LAMP2, TRPM4, ACTC1, NKX2-5, PRKAG2, TBX5, GJA5, SCN10A, TNNI3K
Specificity
5 %
Genes
34 %
Phosphorus Pan Arrhythmia Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, ABCC9, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
34 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
34 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
34 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
34 %
Phosphorus Brugada Syndrome Panel.

By Phosphorus Diagnostics LLC in United States.

KCNH2, HCN4, SCN5A, CACNA1C, ABCC9, KCNE3, CACNB2, GPD1L, PKP2, SCN10A
Specificity
10 %
Genes
34 %

Alternate names

Erythermalgia, Primary Is also known as erythromelalgia, primary, erythromelalgia, familial;.



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